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N/A N=6,718

Transthyretin Amyloidosis Outcome Survey (THAOS)

Transthyretin Gene Mutations · Transthyretin Amyloidosis

Enrolled (actual)
6,718
Serious AEs
7.7%
Results posted
Nov 2024
Primary outcome: Primary: Number of Participants With Treatment-Emergent Adverse Events (AEs) and Serious Adverse Events (SAEs) — 621; 175; 66; 4 Participants

Study Design & Population

Study type
Observational
Phase
N/A
Interventions
None. Observational Study. (Other)
Age
Adult, Older Adult · 18+ yrs
Sex
All
Sponsor
Pfizer
Primary completion
Jun 2023

Outcome Measures

OutcomeResultp-value
PRIMARY
Number of Participants With Treatment-Emergent Adverse Events (AEs) and Serious Adverse Events (SAEs)
621; 175; 66; 4; 331; 138
PRIMARY
Number of Participants With Treatment Emergent Treatment Related AEs and SAEs
47; 11; 1; 2; 28; 5
PRIMARY
Number of All-Cause Deaths
158; 1038
SECONDARY
Number of Participants With Modified Polyneuropathy Disability (mPND) Scores at Baseline
1860; 512; 1731; 1642; 785; 1372
SECONDARY
Number of Participants With Coutinho Disease Stages at Baseline
1860; 512; 1731; 2134; 1040; 1721
SECONDARY
Number of Participants With Karnofsky Performance Index at Baseline
2; 1; 2; 6; 0; 6
SECONDARY
Number of Participants With Heart Failure at Baseline
2717; 1125; 2245
SECONDARY
Number of Participants With New York Heart Association (NYHA) Classifications at Baseline
304; 133; 252; 1341; 557; 1088
SECONDARY
Number of Participants Diagnosed With ATTR at Baseline
4773; 2368; 3794; 1234; 36; 1227
SECONDARY
Number of Participants With Prior Misdiagnosis at Baseline
616; 283; 493
SECONDARY
Number of Participants With ATTR Genotypes at Baseline
4950; 1743; 4365; 1768; 778; 1321
SECONDARY
Number of Participants With Past or Current Clinical Trial Participation at Baseline
853; 473; 669; 4417; 1676; 3604
SECONDARY
Number of Participants With Past or Current Tafamidis Compassionate Use/Early Access or Other Non-commercial Program at Baseline
85; 80; 38; 3182; 1410; 2423
SECONDARY
Number of Participants With Known Family History of Symptomatic ATTR at Baseline
3874; 1365; 3485; 2243; 873; 1792
SECONDARY
Number of Affected Generations at Baseline
1.5; 1.5; 1.5
SECONDARY
Derived Neuropathy Impairment Score-Lower Limb (NIS-LL) at Baseline
14.0; 20.3; 12.7; 8.2; 7.5; 8.3
SECONDARY
Body Mass Index (BMI) at Baseline
26.3; 26.5; 25.9
SECONDARY
Modified Body Mass Index (mBMI) at Baseline
1078; 1063.1; 1083.3
SECONDARY
Sitting Systolic and Diastolic Blood Pressures (SBP and DBP) at Baseline
123.7; 125.3; 122.9; 75.3; 75.6; 75.1
SECONDARY
Left Ventricular (LV) Septum Thickness at Baseline
15.2; 15.3; 15.2
SECONDARY
Left Ventricular (LV) Ejection Fraction at Baseline
53.6; 54.3; 53.5
SECONDARY
Euro Quality of Life-5 Dimensions-3 Level (EQ-5D-3L): Visual Analog Scale (VAS) Overall Health Score at Baseline
71.0; 70.2; 71.7
SECONDARY
EQ-5D-3L: VAS Derived Index at Baseline
0.8; 0.8; 0.8
SECONDARY
Norfolk Total Quality of Life (QoL) Score at Baseline
24.3; 25.2; 23.1
SECONDARY
Number of Participants With Abnormal Electrocardiogram (ECG) at Baseline
2911; 1226; 2315
SECONDARY
Number of Participants With Atrial Fibrillation/Flutter, Pacemaker Implanted, and Implantable Cardioverter/Defibrillator (ICD) at Baseline
667; 290; 501; 364; 167; 266

Summary

THAOS is a global, multi-center, longitudinal observational survey open to all patients with transthyretin amyloidosis (ATTR), including ATTR-PN (polyneuropathy), ATTR-CM (cardiomyopathy) and wild-type ATTR-CM. It is open-ended with a minimum duration of 10 years. Patients will be followed as long as they are able to participate. The principal aims of this outcome survey are to better understand and characterize the natural history of the disease by studying a large and heterogenous patient population. Survey data may be used to develop new treatment guidelines and recommendations, and to inform and educate clinicians about the management of this disease.

Eligibility Criteria

Inclusion Criteria: Patients must meet all of the following inclusion criteria to be eligible for inclusion into THAOS:

  • Evidence of a personally signed and dated informed consent document indicating that the participant (or a legally acceptable representative) has been informed of all pertinent aspects of the study.
  • Males and females greater than or equal to 18 years of age.
  • Confirmed genotyped TTR mutation with or without a diagnosis of hereditary or wild-type ATTR amyloidosis. Confirmation of ATTRwt amyloidosis will be determined by genotyped confirmation that patient does not possess a known mutation in TTR gene (ie, is a carrier of wild-type allele only) via genetic testing and one of the following set of criteria (a, b, or c):
  • Presence of amyloid in cardiac biopsy tissue confirmed as TTR amyloid by mass spectrometry or immunohistochemistry; or
  • Evidence of cardiac involvement by echocardiogram as defined by left ventricle wall thickness of >12 mm, and presence of amyloid in non-cardiac tissue confirmed as TTR amyloid by mass spectrometry or immunohistochemistry; or
  • Evidence of cardiac involvement by echocardiogram as defined by left ventricle wall thickness of >12 mm, and presence of amyloid in cardiac tissue indirectly confirmed by scintigraphy with a "bone seeking tracer" eg, 99mTC-DPD [99mTC-3,3-diphosphono-1,2-propano-dicarboxylic acid], 99mTC- PYP [Pyrophosphate], and 99mTC-HMDP [hydroxymethylene diphosphonate] with Perugini grade greater than or equal to 2.

Exclusion Criteria

Patients meeting any of the following will not be included in the study:

  • Patient has evidence of primary (light chain) or secondary amyloidosis.
View full record on ClinicalTrials.gov →

Data sourced from ClinicalTrials.gov (NCT00628745). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.

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